4p15.31CNV Type: Deletion-Duplication
Largest CNV size: 132536 bp
Statistics Box:
Number of Reports: 9
Number of Reports: 9
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion-Duplication
A genotype resource for postmortem brain samples from the Autism Tissue Program.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
273404
2
4
6
gorker_18_ASD_discovery_cases
Individuals living in the Trakya region of Turkey with a pre-diagnosis of ASD who were referred to the Trakya University Child and Adolescent Psychiatry Department between January 2015-December 2015
53
All cases were diagnosed with ASD according to DSM-V and were further assessed using the Childhood Autism Rating Scales (CARS); 14 cases were comorbid with intellectual disability, 16 cases were comorbid with ADHD (assessed by the Conners Parent Rating Scale-Revised Short/CPRS-RS)
Mean age, 9.2 years
74.0% Male
982899
0
1
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
515256
0
1
1
leblond_12_ASD_replication_cases
Dataset featuring ASD patients from the Autism Genome Project carrying de novo SHANK2 deletions previously identified by Pinto et al. 2010. CNV validation information taken from Pinto report.
2
1 patient diagnosed with autism, 1 patient diagnosed with PDD-NOS.
NA
100% Male
25132
1
0
1
mosca_16_DCD_discovery_cases
Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)
82
All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.
Range, 8-17 years (Mean, 10.06 2.92 yrs.)
N/A
22202
0
1
1
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
16382
1
1
2
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
151344
3
2
5
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
58876
25
6
31
wintle_10_ASD_discovery_cases
Autism Tissue Program: postmortem brain tissue from Harvard Brain Tissue Resource Center (HBTRC)
34
26 subjects with confirmed or suspected autism, 4 subjects with confirmed autism and 15q duplication, 2 subjects with epilepsy, 1 subject with 15q duplication, & 1 subject with Angelman syndrome
Mean, 25.97 18.93
73.53% Male
78200
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
371122
9
1
10
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
18902
1
0
1
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
151344
0
0
0
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
58876
17
2
19
wintle_10_ASD_discovery_controls_2
Control samples from POPGEN (n=1123) & Ottawa Heart Institute (n=1234); used for identification of rare CNVs in Affymetrix data
2357
Controls
51.3% Male
78200
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gorker_18_ASD_discovery_cases
Turkish
aCGH
Agilent SurePrint G3 8x60K
N/A
Agilent Feature Extraction v.12.0.1.1, Agilent Cytogenomics v.2.9.2.4
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
leblond_12_ASD_replication_cases
1 Canadian, 1 French
Solid phase hybridization
Illumina 1M SNP array
QuantiSNP, PennCNV
None
mosca_16_DCD_discovery_cases
Canada
Solid phase hybridization
Illumina HumanOmni2.5-Quad BeadChip
iPattern, PennCNV, QuantiSNP, CNVPartition
None
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
qPCR
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
wintle_10_ASD_discovery_cases
31 European, 2 East Asian, 1 African
Array SNP, solid phase hybridization
Affymetrix 6.0, Illumina Human 1M-duo
PennCNV, Birdsuite, iPattern
QuantiSNP, Affymetrix Genotyping Console
Solid phase hybridization
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
wintle_10_ASD_discovery_controls_2
99% European
N/A
N/A
N/A
N/A
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_cases-case13049_583
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
21531710
21564555
32846
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14207_3330
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
19128092
19175528
47437
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case18087_302
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
21580697
21637893
57197
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case21029_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
20873691
20946436
72746
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case2303_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
22487139
22760543
273405
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5065_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
22877281
23009816
132536
GRCh38
Duplication
No
gorker_18_ASD_discovery_cases-case31
7 yrs.
M
ASD, ADHD, ID
ASD and ADHD
Intellectual disability
19314943
20297842
982900
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000368
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
19656960
20172216
515257
GRCh38
Duplication
Yes
leblond_12_ASD_replication_cases-Pintocase6319_3
NA
M
PDD-NOS
ADI-R domain scores: social, 14; communication, 8; behaviors, 2; age at first symptoms <36 months. Developmental milestones: delayed langauge (1st words at 24 months, 1st sentences at 48 months); no history of regression. Language and communication evaluation: delayed but functional language. Epilepsy/seizures: no history of epilepsy. Neurological examination: normal. Dysmorphic features: large and prominent ears, flat feet. Other comorbid medical conditions: hypermetropia.
Mild intellectual disability (ID). WISC-III IQ scores: full-scale IQ, 60; performance IQ, 60; verbal IQ, 67.
22047014
22072145
25132
GRCh38
Deletion
No
mosca_16_DCD_discovery_cases-case110903
N/A
M
DCD (with or without ADHD and/or RD)
Ancestry: unknown. Family history: maternal diagnosis unknown; paternal diagnosis unknown.
20650937
20673138
22202
GRCh38
Duplication
No
pinto_10_ASD_discovery_cases-case5065_3
NA
M
Autism
Language delay, no epilepsy, spina bifida oculta, high arched palate, no other dysmorphic features noted
Below average nonverbal IQ (<1%ile)
22877281
23009816
132536
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5070_4
NA
M
Autism
Below average language (<1%ile), no epilepsy, no dysmorphic features
Average nonverbal IQ (34%ile)
20944461
20960842
16382
Unknown
Deletion
Yes
prasad_12_ASD_discovery_cases-case100678L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
20027378
20046392
19015
Unknown
Deletion
Yes
prasad_12_ASD_discovery_cases-case143560
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
21395206
21429874
34669
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case154263L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
21188960
21250500
61541
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case54259
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
22394333
22409646
15314
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case60836
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
22473622
22624965
151344
Unknown
Duplication
No
sanders_11_ASD_discovery_cases-11010.p1
4.1
M
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 68; verbal IQ, 60
22047014
22067756
20743
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11050.p1
5.7
F
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 95; verbal IQ 104
22047014
22067756
20743
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11109.p1
4.5
F
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 96; verbal IQ 71
22047014
22067756
20743
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11114.p1
8.8
F
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 45; verbal IQ, 30
22047014
22067756
20743
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11310.p1
11
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 97; verbal IQ, 63
20724306
20735119
10814
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11323.p1
8.6
F
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 114; verbal IQ, 98
22047014
22084571
37558
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11348.p1
7.8
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 84; verbal IQ, 64
19128092
19171119
43028
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11413.p1
13.4
M
Autism
NA
Full-scale IQ, 95; non-verbal IQ, 104; verbal IQ, 102
23174832
23233708
58877
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11466.p1
9.2
M
Aspergers
NA
Full-scale IQ, 121; non-verbal IQ, 121; verbal IQ, 113
22047014
22067756
20743
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11475.p1
7.8
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 86; verbal IQ, 110
22663144
22664432
1289
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11497.p1
6.5
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 102; verbal IQ, 109
22047014
22067756
20743
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11522.p1
11.3
M
Autism
NA
Full-scale IQ, 67; non-verbal IQ, 79; verbal IQ, 60
22047014
22067756
20743
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11644.p1
17
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 106; verbal IQ, 112
22047014
22067756
20743
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11704.p1
9.3
M
Autism
NA
Full-scale IQ, 62; non-verbal IQ, 82; verbal IQ, 33
20555836
20564238
8403
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11794.p1
8.3
M
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 40; verbal IQ, 33
22726482
22744843
18362
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11924.p1
7.6
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 105; verbal IQ, 74
19520113
19525036
4924
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12050.p1
5.5
M
Autism
NA
Full-scale IQ, 58; non-verbal IQ, 60; verbal IQ, 64
22047014
22067756
20743
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12068.p1
12.5
M
Autism
NA
Full-scale IQ, 35; non-verbal IQ, 39; verbal IQ, 26
22047014
22072145
25132
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12161.p1
6.3
F
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 95; verbal IQ, 122
22047014
22067756
20743
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12260.p1
5.3
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 103; verbal IQ, 109
20559487
20564238
4752
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12308.p1
14.3
F
Aspergers
NA
Full-scale IQ, 105; non-verbal IQ, 105; verbal IQ, 105
22050321
22067756
17436
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12407.p1
9.4
M
ASD
NA
Full-scale IQ, 68; non-verbal IQ, 86; verbal IQ, 41
19520113
19525036
4924
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12480.p1
13.1
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 83; verbal IQ, 96
19520113
19533620
13508
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12691.p1
10.9
F
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 32; verbal IQ, 39
21500066
21503197
3132
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12937.p1
17.3
M
Autism
NA
Full-scale IQ, 35; non-verbal IQ, 40; verbal IQ, 26
19520113
19525036
4924
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12977.p1
8.2
F
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 95; verbal IQ, 107
22047014
22067756
20743
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12998.p1
4.3
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 116; verbal IQ, 93
20360219
20361093
875
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13001.p1
6.3
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 91; verbal IQ, 46
22050321
22067756
17436
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13057.p1
4.2
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 118; verbal IQ, 87
19520113
19525036
4924
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13153.p1
9.3
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 86; verbal IQ, 59
19520113
19525036
4924
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13388.p1
5.4
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 81; verbal IQ, 113
22047014
22067756
20743
GRCh38
Deletion
No
wintle_10_ASD_discovery_cases-AN19511
8
M
Autism
Autism
22740638
22818881
78244
GRCh38
Deletion
Yes
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-control110036019107_
N/A
N/A
Control
No previous psychiatric history
19084064
19384897
300834
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB352015_1007874446
N/A
N/A
Control
No previous psychiatric history
18898965
19264286
365322
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB684705_1007853749
N/A
N/A
Control
No previous psychiatric history
21787902
21841172
53271
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB792739_1007854317
N/A
N/A
Control
No previous psychiatric history
23030597
23159038
128442
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB855482_0067949239
N/A
N/A
Control
No previous psychiatric history
19569318
19742376
173059
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB983431_1007853825
N/A
N/A
Control
No previous psychiatric history
18893164
19264286
371123
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900503_900503
N/A
N/A
Control
No previous psychiatric history
21594866
21637893
43028
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900930_900930
N/A
N/A
Control
No previous psychiatric history
21391354
21436294
44941
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901143_901143
N/A
N/A
Control
No previous psychiatric history
19569318
19615026
45709
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902838_902838
N/A
N/A
Control
No previous psychiatric history
18955622
18994492
38871
GRCh38
Deletion
No
nord_11_ASD_discovery_controls-04C27162
Control
20286333
20305234
18902
Unknown
Deletion
sanders_11_ASD_discovery_controls-11010.s1
7.7
M
Control (matched sibling)
NA
NA
22047014
22067756
20743
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11107.s1
3.7
M
Control (matched sibling)
NA
NA
22047014
22067756
20743
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11172.s1
13.6
F
Control (matched sibling)
NA
NA
19614908
19651609
36702
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11300.s1
8
M
Control (matched sibling)
NA
NA
22047014
22067756
20743
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11348.s1
9.2
F
Control (matched sibling)
NA
NA
19128092
19171119
43028
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11413.s1
13.5
M
Control (matched sibling)
NA
NA
23174832
23233708
58877
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11466.s1
7.3
F
Control (matched sibling)
NA
NA
22047014
22067756
20743
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11484.s1
14.4
M
Control (matched sibling)
NA
NA
22047014
22067756
20743
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11497.s1
5.1
M
Control (matched sibling)
NA
NA
22047014
22067756
20743
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11522.s1
15.6
M
Control (matched sibling)
NA
NA
22047014
22067756
20743
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12076.s1
6.2
M
Control (matched sibling)
NA
NA
19520113
19525036
4924
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12161.s1
7.7
F
Control (matched sibling)
NA
NA
22047014
22067756
20743
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12451.s1
12.3
M
Control (matched sibling)
NA
NA
19520113
19520333
221
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12592.s1
10.1
F
Control (matched sibling)
NA
NA
23290359
23346987
56629
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12691.s1
23.8
M
Control (matched sibling)
NA
NA
21497695
21503197
5503
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12810.s1
13.7
F
Control (matched sibling)
NA
NA
22047014
22067756
20743
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12977.s1
5.3
M
Control (matched sibling)
NA
NA
22050321
22067756
17436
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13073.s1
6.6
M
Control (matched sibling)
NA
NA
22047014
22067756
20743
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13076.s1
19.5
F
Control (matched sibling)
NA
NA
19520113
19520333
221
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_cases-case13049_583
Unknown
KCNIP4
engchuan_15_ASD_discovery_cases-case14207_3330
Unknown
LINC02438
engchuan_15_ASD_discovery_cases-case18087_302
Unknown
KCNIP4
engchuan_15_ASD_discovery_cases-case21029_1
Unknown
KCNIP4
engchuan_15_ASD_discovery_cases-case2303_1
Unknown
CDC42P6,ADGRA3,GBA3
engchuan_15_ASD_discovery_cases-case5065_3
Unknown
gorker_18_ASD_discovery_cases-case31
Unknown
Unknown
Unknown
LINC02438,SLIT2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000368
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
leblond_12_ASD_replication_cases-Pintocase6319_3
Maternal
mosca_16_DCD_discovery_cases-case110903
Unknown
Unknown
Unknown
pinto_10_ASD_discovery_cases-case5065_3
Agilent1M
maternal
Multiplex
Unknown
pinto_10_ASD_discovery_cases-case5070_4
qPCR
paternal
Multiplex
Unknown
KCNIP4 intronic
prasad_12_ASD_discovery_cases-case100678L
qPCR
Maternal
Unknown
Unknown
SLIT2
prasad_12_ASD_discovery_cases-case143560
Unknown
Unknown
Unknown
KCNIP4
prasad_12_ASD_discovery_cases-case154263L
Unknown
Unknown
Unknown
KCNIP4
prasad_12_ASD_discovery_cases-case54259
Unknown
Unknown
Unknown
GBA3
prasad_12_ASD_discovery_cases-case60836
Unknown
Unknown
Unknown
0 genes
sanders_11_ASD_discovery_cases-11010.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11050.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11109.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-11114.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11310.p1
Unknown
Simplex (quad-proband matched)
Segregated
PACRGL,KCNIP4
sanders_11_ASD_discovery_cases-11323.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11348.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11413.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11466.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11475.p1
Both parents
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11497.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11522.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11644.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11704.p1
Paternal
Simplex (trio)
NA
SLIT2
sanders_11_ASD_discovery_cases-11794.p1
Unknown
Simplex (quad-proband matched)
Not segregated
CDC42P6,GBA3
sanders_11_ASD_discovery_cases-11924.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12050.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12068.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12161.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12260.p1
Maternal
Simplex (trio)
NA
SLIT2
sanders_11_ASD_discovery_cases-12308.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12407.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12480.p1
Both parents
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12691.p1
Paternal
Simplex (quad-proband matched)
Not segregated
KCNIP4
sanders_11_ASD_discovery_cases-12937.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-12977.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12998.p1
Paternal
Simplex (trio)
NA
SLIT2
sanders_11_ASD_discovery_cases-13001.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13057.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13153.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13388.p1
Maternal
Simplex (trio)
NA
wintle_10_ASD_discovery_cases-AN19511
Solid phase hybridization (Illumina Human 1M-duo)
Unknown
Unknown
Unknown
GBA3
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036019107_
Unknown
RNA5SP157,LINC02438
engchuan_15_ASD_discovery_controls-controlB352015_1007874446
Unknown
RNA5SP157,LINC02438
engchuan_15_ASD_discovery_controls-controlB684705_1007853749
Unknown
KCNIP4
engchuan_15_ASD_discovery_controls-controlB792739_1007854317
Unknown
engchuan_15_ASD_discovery_controls-controlB855482_0067949239
Unknown
engchuan_15_ASD_discovery_controls-controlB983431_1007853825
Unknown
RNA5SP157,LINC02438
engchuan_15_ASD_discovery_controls-controlHABC_900503_900503
Unknown
KCNIP4
engchuan_15_ASD_discovery_controls-controlHABC_900930_900930
Unknown
KCNIP4
engchuan_15_ASD_discovery_controls-controlHABC_901143_901143
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902838_902838
Unknown
nord_11_ASD_discovery_controls-04C27162
0 genes
sanders_11_ASD_discovery_controls-11010.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11107.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11172.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11300.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11348.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11413.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11466.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11484.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11497.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11522.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12076.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12161.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12451.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12592.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12691.s1
Paternal
Simplex (quad)
NA
KCNIP4
sanders_11_ASD_discovery_controls-12810.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12977.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13073.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13076.s1
Both parents
Simplex (quad)
NA
No Animal Model Data Available